Variant (rsID / SNP)

rs7536561

rs7536561 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to LHX4, ACBD6. Location: chromosome 1, position 180,243,524. Clinical significance in the table: Benign.

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Reference-table entries

LHX4Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:180243524
Cytoband: 1q25.2
HGVS: NM_033343.4(LHX4):c.983A>G (p.Asn328Ser)
Allele change: Missense_N328S

Associated conditions / phenotypes

Short stature-pituitary and cerebellar defects-small sella turcica syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.